Episodes
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This week is Hereditary Breast and Ovarian Cancer Awareness and I was lucky enough to have three fabulous guests on Demystifying Genetics.
First Guest – Ellen Matlof, Genetic Counselor & Director, My Gene Counsel
Ellen is a genetic counsellor extraordinaire in Connecticut, USA, with many years experience working in the familial cancer setting. We discuss:
• The role of the Genetic Counselor and their role in the ordering and interpretation of genetic results
• What a gene is and what variants in a gene means
• The My Gene Counsel Living Lab Report
• Hereditary cancer testing including BRCA1 & BRCA2
• APOE testing and dementia
• Gene patenting
• Case studies of misinterpretation of genetic results due to no genetic counsellor being involved
Second Guest- Nicole
I go on to speak to Nicole. She has recently found out she has a BRCA2 mutation and was lovely enough to come on the podcast to share her story. We talk about how she came to have genetic testing, the impact it has had on her life and that of her family.
Third Guest – Krystal Barter – Founder of Pink Hope
Krystal has a very strong family history of breast cancer and she found out she had a BRCA1 mutation at 21. After having a preventative double mastectomy, Krystal founded an online support organisation called Pink Hope. Pink Hope is a fabulous resource. -
In this ninth Demystifying Genetics podcast I discuss Fragile X and other conditions of learning disability with Dr Mike Field, Consultant Clinical Geneticist. Mike has a lovely way of taking complex concepts and issues and explaining in a way that is easy and straightforward to understand. Mike has been involved with many research projects to do with the genetics of learning disability and we spent some time talking about this. We also covered Invitro Fertilisation (IVF) and preimplantation genetic diagnosis (PGD), which are techniques that an individual or couples may choose to achieve a pregnancy and by eliminating the risk of passing a certain condition on to the next generation. We end our podcast together by discussing bioinformatics and it’s relationship with clinical genetics and the future of genetics.
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Welcome to a podcast all about Huntington disease (HD). Joining me in this podcast is Senior Social Worker John Conaghan. I love all my guests and love all of my conversations about demystifying genetics, however this podcast feels special. John is such a caring and empathic worker and his kindness shines through in this conversation.
We discuss what Huntington disease is and how it affects people with the condition and also the affect it has on their families. John has a long history of working with people and families affected with HD. John was working before the gene for HD was discovered. We talk about what it was like when genetic testing for the HD gene became available. Before direct genetic testing was available, a less sophisticated test called “linkage” was available and John discusses the issues with this type of testing and the hope that came with direct genetic testing. The new hope is that of genetic therapies that may come. -
Prof Martin Delatycki joins me for this podcast. Martin is a clinical geneticist in Melbourne, Australia. He works clinically, but also has a strong research interest.
We speak about the following genetic conditions:
• Friedreich’s ataxia
• Hereditary Haemochromatosis
• Tay Sachs disease
• Spinal Muscular atrophy
• Spinocerebellar ataxia type 3
More information about these conditions can be found at rarediseases.org
We also talk about the genetic research and clinical trials that Martin is involved with including ones regarding resveratrol, rehabilitation and community screening. -
In this podcast I was lucky enough to speak to Kristine Barlow – Stewart. Kris has been a genetic counsellor in Australia for many years. Kris is highly involved with genetics education and this is what we have a good chat about. We explore issues such as genetics education, evidence based genetic counselling research and the diagnostic odyssey. We also discuss the management of uncertainty in genetic counselling and the future of this profession.
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Lucinda is a fabulous genetic counsellor who I was lucky enough to study with back in 2004. We attended a conference last year in Cambridge, UK and before the start of the conference we spent a few days in Paris together where this photo was taken.
Lucinda was granted a Churchill Fellowship in 2016. She spent a number of weeks visiting clinical genetics services in the USA and UK in 2017 and the report, which Lucinda authored is entitled “To gain a strong evidence base for counselling patients about whole genome testing - USA, UK”. -
Demystifying Genetics with Jane Tiller
This podcast can be accessed via Apple iTunes Podcasts at
https://itunes.apple.com/au/podcast/demystifying-genetics/id1387090904
or on Buzzsprout at
http://demystifying-genetics.buzzsprout.com/
I was lucky enough to record this podcast with Jane Tiller in the studio in Melbourne. The photo is a selfie of us outside the studio.
Jane and I discussed direct to consumer testing, life insurance and genetics and the tristate killer. Listen in for an interesting conversation about genetics and ethics.
One of the topics we discussed was genetic sexual attraction. Wikipedia has an interesting page on this topic https://en.wikipedia.org/wiki/Genetic_sexual_attraction
Jane can be found at https://www.linkedin.com/in/jane-tiller-13675728/ -
I had the pleasure of catching up with Genetic Counsellor Yasmin in this latest podcast. Yasmin discussed many issues related to genetic counselling including pharmacogenomics and genetic conditions hypercholesterolemia and cardiac genetics. More info can be found at https://www.insightgenomica.com.au/podcasts/
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It was a pleasure having Ron as my first guest on my podcast. We covered many topics including Ron's private genetic counselling practice in Sydney, Australia, what genetic counselling actually is, prenatal genetic counselling, expanded carrier testing and the professional body for clinical genetics in Australia; the Human Genetics Society of Australasia. More info can be found at https://www.insightgenomica.com.au/podcasts/
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This is the first podcast in a series called Demystifying Genetics where I, Matt Burgess, Genetic Counsellor am interviewed by my partner Daniel Goodfellow. Podcasts to follow will have me interviewing genetic counsellors and others working in or involved with genetics.
More information can be found at https://www.insightgenomica.com.au/podcasts/
